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congenital disorder of glycosylation Im
Summary
- Synonym
-
- DOLK-congenital disorder of glycosylation
- congenital disorder of glycosylation 1m
- dolichol kinase deficiency
- Definition
- A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080565
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003323 | Progressive muscle weakness |
| HP:0001270 | Motor delay |
| HP:0010845 | EEG with generalized slow activity |
| HP:0000729 | Autistic behavior |
| HP:0007359 | Focal-onset seizure |
| HP:0012469 | Infantile spasms |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0000486 | Strabismus |
| HP:0002521 | Hypsarrhythmia |
| HP:0008947 | Infantile muscular hypotonia |
